"rare genetic disorders; animal models; mucopolysaccharidosis group, S; glycosphingolipids; lysosomal storage disorders, m; tandem mass spectrometry; DNA microarray technology"@en . "2014-03-21+01:00"^^ . . . "1"^^ . "0"^^ . "0"^^ . "0"^^ . " tandem mass spectrometry" . . . . . "http://www.isvav.cz/projectDetail.do?rowId=NT13122"^^ . . . "0"^^ . "2015-01-22+01:00"^^ . " glycosphingolipids" . . . . "NT13122" . " mucopolysaccharidosis group" . . "The goal of the project is to characterize structural, biochemical and transcriptional changes in knock-out mouse model of hereditary lysosomal disorder, mucopolysaccharidosis type IIIC (MPS IIIC), which was developed as a joint effort with Prof Pshezhetsky (Montr\u00E9al). Storage process will be characterized in neuronal and visceral tissues at histological, histochemical, biochemical and ultrastructural levels at 0, 2, 5, 10 month of age and at death, with special emphasis on neuropathology. Levels of glycolipids, which possibly contribute to the pathogenesis of MPS IIIC, will be analyzed by immunohistochemistry, tandem mass spectrometry, mass spectrometry imaging. Gene expression in the brain will be studied by microarrays. The project will characterize in detail the first MPSIIIC animal model and address the role of glysosphingolipid accumulation and neuroinflammation in MPS IIIC. Other aspects of the model will be studied by Prof Pshezhetsky and result in a joint publication."@en . " lysosomal storage disorders" . " S" . "rare genetic disorders" . "2012-04-01+02:00"^^ . . . "Charakterizace prvn\u00EDho my\u0161\u00EDho modelu mukopolysacharid\u00F3zy typu IIIC" . " m" . . . . "C\u00EDlem projektu je charakterizovat struktur\u00E1n\u00ED a biochemick\u00E9 zm\u011Bny a expresi gen\u016F u my\u0161\u00EDho knock-out modelu d\u011Bdi\u010Dn\u00E9ho lysosom\u00E1ln\u00EDho onemocn\u011Bn\u00ED mukopolysacharidosy typu IIIC (MPS IIIC), kter\u00FD byl vyvinut ve spolupr\u00E1ci s Prof.Pshezhetsk\u00FDm (Montr\u00E9al). St\u0159\u00E1dac\u00ED proces bude charakterizov\u00E1n v neuron\u00E1ln\u00EDch a viscer\u00E1ln\u00EDch tk\u00E1n\u00EDch na histologick\u00E9, histochemick\u00E9, bicohemick\u00E9 a ultrastruktu\u00E1ln\u00ED \u00FArovni v 0, 2, 5, 10 m\u011Bs\u00EDc\u00EDch v\u011Bku a p\u0159i \u00FAmrt\u00ED. Zvl\u00E1\u0161tn\u00ED d\u016Fraz bude kladen na neuropatologii. Koncentrace glykolipid\u016F, je\u017E pravd\u011Bpodobn\u011B p\u0159isp\u00EDvaj\u00ED k patogenezi MPS IIIC budou analyzov\u00E1ny imunohistochemicky, tandemovou hmotnostn\u00ED spektrometri\u00ED, a hmotnostn\u011B spektrometrick\u00FDm zobrazov\u00E1n\u00EDm. Exprese gen\u016F bude studov\u00E1na DNA \u010Dipy. Projekt bude detailn\u011B charakterizovat prvn\u00ED my\u0161\u00ED model MPS IIIC a c\u00EDlen\u011B se bude zab\u00FDvat rol\u00ED st\u0159\u00E1d\u00E1n\u00ED glykolipid\u016F a neuroinflamativn\u00EDch zm\u011Bn. Dal\u0161\u00ED aspekty modelu bude studovat Prof.Pshezhetsky a v\u00FDsledkem bude spole\u010Dn\u00E1 publikace." . "2015-06-30+02:00"^^ . " animal models" . "Characterization of the first mouse model of mucopolysaccharidosis type IIIC"@en .